DOWN SYNDROME:

• Down syndrome or trisomy 21, is the most common genetic cause of cognitive or intellectual disability.

• Prevalence: 1 in 691 births.

• Individuals with Down syndrome have characteristic physical features, short stature, and hypotonia, distinctive cognitive and behavioural profile.

• Characteristic physical features include brachycephaly with a flat occiput; epicanthal folds and upslanting palpebral fissures; Brushfield spots in the iris; low nasal bridge; low-set ears; broad neck; and small hands with transverse crease.

• They also have a higher frequency of associated medical conditions, including congenital heart defects, and gastrointestinal, thyroid, haematological, audiological, and visual abnormalities.

• Global developmental delay, variable IQ ranging from mild to moderate intellectual disability, and age-related pattern of neurobehavioural phenotype.

• Early interventional therapies (e.g., speech therapy, physiotherapy, occupational therapy) and individualised educational programmes/resources are essential to maximise the potential of a person with Down's syndrome.

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